Results 31 to 40 of about 401 (136)

The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria [PDF]

Journal of Molecular Medicine, 2022
Abstract Dyschromatosis universalis hereditaria (DUH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body. Although Sterile Alpha motif- and SH3 domain-containing protein 1 ( SASH1 ) and ATP-binding cassette subfamily B, member 6 ( ABCB6 ) have been ...
Hongyu Chen, Pingping Yang, Dan Yang, Dongsheng Wang, Mao Lu, Yadong Li, Zhiqiang Zhong, Jing Zhang, Zhen Zeng, Zhi Liu, Xiaohua Zeng, Xu Jia, Qinghe Xing, Ding'an Zhou   +13 more
openaire   +3 more sources

Thrombocytopenia in dyschromatosis universalis hereditaria

Ceylon Medical Journal, 2012
Dyschromatosis universalis hereditaria (DUH) is an extremely rare genodermatosis, characterised by hyperand hypo-pigmented macules forming a reticulate pattern. We describe a patient with features of DUH.
S, Pirasath, T, Sundaresan, T, Tamilvannan   +2 more
openaire   +4 more sources

Dyschromatosis universalis hereditaria: A rare entity

Dermatology Online Journal, 2011
Dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled hyperpigmented and hypopigmented macules that give an overall impression of mottling. We hereby report a case of dyschromatosis universalis hereditaria in a young female with a family history of ...
Kumar, Sumir, Mahajan, Bharat Bhushan, Jr, Rajwinder Singh   +2 more
openaire   +5 more sources

Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India.

Indian J Hum Genet, 2013
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We report a case of DUH in a south Indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment.
Yadalla HK, Pinninti S, Babu AR.
europepmc   +4 more sources

A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family [PDF]

JAAD Case Reports, 2022
Sara Aldokhayel, MD, Alballa Nouf, MD, Aleedan Khalid, MD, Alsaif Faisal, MD, Alotaibi Maram, MD, Alhumidi Ahmed, MD, Alsaif Fahad, MD   +6 more
doaj   +2 more sources

Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria

Indian Journal of Dermatology, Venereology and Leprology, 2019
Wei-Long, Zhong, Hui-Jun, Wang, Zhi-Miao, Lin, Yong, Yang   +3 more
exaly   +4 more sources

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

Chinese Medical Journal, 2016
Background: The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types ...
Jia-Wei Liu, Asan, Jun Sun, Sergio Vano-Galvan, Feng-Xia Liu, Xiu-Xiu Wei, Dong-Lai Ma   +6 more
doaj   +2 more sources

A case of dyschromatosis universalis hereditaria [PDF]

Our Dermatology Online, 2020
Nihal Yadav Basavaraj, Aneesh Samayam, Anjan Kumar Patra   +2 more
openaire   +2 more sources

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report. [PDF]

Medicine (Baltimore), 2023
Yang Y, Jiang N, Mai JQ, Yang S, Xiao Y, Liu S.   +5 more
europepmc   +2 more sources

Dyschromatosis Universalis Hereditaria with bilateral keratopathy – A case report

Indian Journal of Ophthalmology. Case Reports
A 14-year-old male presented with bilateral corneal thinning and opacification. Clinical examination revealed impending perforation of the right eye. There was a history of pigmented macules all over the trunk and extremities, as well as buccal mucosa ...
Neha Kumari, Rakhi Kusumesh, Ashmita Adhikari, Annu Rai   +3 more
doaj   +2 more sources